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Clinical Cytogenetics and Molecular Genetics > Patterns of Inheritance > Flashcards

Patterns of Inheritance Flashcards

1
Q

_____________ means identical alleles at a genetic locus

A

homozygous

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2
Q

___________ means two different alleles at a genetic locus

A

heterozygous

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3
Q

________ ______________ two different alleles at two different genetic loci (base pairs) in the same gene

A

compound heterozygote

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4
Q

___________ ____________ means two different alleles at two different genetic loci in different genes

A

Double heterozygote

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5
Q

____________ is the proportion of individuals with a gene mutation who actually express the disease condition. The probability that a genetic variation (or allele) will yield the phenotype at all.

A

penetrance

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6
Q

___________ ___________ is the phenomenon of differing clinical features (phenotype) among individuals carrying the same genotype

A

variable expressivity

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7
Q

____________ effect—high frequency of a gene mutation in a population founded by a small ancestral group

A

founder effect
(bottle neck effect)

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8
Q

Two most common mutations in Tay sachs in the ____________ gene on chromosome 15

A

TATC (80%) insertion in exon 11
intron 12 splice site alteration
G269Ser in exon 7

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9
Q

What are Mendel’s 3 laws?

A
  1. Law of segregation
  2. Law of independent assortment
  3. Law of dominance
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10
Q

Mendelian disorders are ________-gene disorders

A

single

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11
Q

Chromosomal disorders are less often _________ and usually syndromic

A

inherited

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12
Q

In autosomal dominant inheritance the dominant gene is located on an _______________ and each child of an affected parent has a __% risk

A

autosome
50% risk

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13
Q

In autosomal dominant inheritance males and females are affected _____________ and the inheritance pattern is __________ with male to male and female to female inheritance observed

A

equally
vertical

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14
Q

In _____________ ______________ the phenotype of heterozygous is intermediate between heterozygous and homozygous

A

incomplete dominance

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15
Q

In co-dominance the contributions of both alleles are visible in the ____________

A

phenotype

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16
Q

Type of inheritance

A

AD

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17
Q

Disease and inheritance?
- MVP, aorta dilitation, tall - arachnodactyly, scoliosis, lens dislocation and myopia

A

Marfans -FBN1 gene chromosome 15
autosomal dominant

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18
Q

_________ criteria for diagnosing Marfan syndrome

A

Ghent

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19
Q

Inheritance pattern?

A

AR

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20
Q

In autosomal recessive disorders the carrier parents have a _______% chance of having an affected child. Females and males are affected equally. If both parents affected then _____% offspring are affected

A

25%
100%

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21
Q

In autosomal recessive enzymatic diseases the phenotype can be the result of precursor __________ or the ___________ of product

A

accumulation
absence

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22
Q

Type of inheritance?

A

XR

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23
Q

In ________ -_________ ___________ inheritance affected individuals are primarily male with unaffected parents. All female siblings will be carriers and the male offspring of the proband are affected

A

X-linked recessive

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24
Q

Is X-linked inheritance vertical or horizontal?

A

Neither horizontal or vertical

25
Q

Type of inheritance for the following diseases:
Hemophilia A, Duchenne/Becker, Fabry’s, Fragile X, spinobulbar muscular atrophy and Lesch-Nyhan syndrome

A

X-linked recessive

26
Q

Type of inheritance for Duchenne/Becker

A

X-linked recessive

27
Q

Type of inheritance for Hemophilia A

A

X-linked recessive

28
Q

Type of inheritance for Fabry’s

A

X-linked recessive

28
Q

Type of inheritance for Fragile X

A

X-linked recessive

29
Q

Type of inheritance for spinobulbar muscular atrophy

A

X-linked recessive

30
Q

Type of inheritance for Lesch-Nyhan syndrome

A

X-linked recessive

31
Q

In _______-__________ ____________ inheritance all female offspring of affected males will carry the mutation (may or may not express the phenotype). No male offspring of affected males will be affected. An affected female has a 50% chance of having an affected child. Nearly all affected individuals have an affected parents.

A

X-linked dominant

32
Q

Type of inheritance?

A

X-linked dominant

33
Q

Type of inheritance?

A

X-linked dominant with male lethality

34
Q

In _____-__________ inheritance only males are affected and there is only male to male transmission with 100% of male offspring from affected parent

35
Q

Type of inheritance?

36
Q

The ______________ regions on the Y chromosome are responsible for Y-linked inheritance

A

pseudoautosomal (PAR)

37
Q

_____________ inheritance pattern is where female proband has all affected children but male proband has no affected children

A

mitochondrial

38
Q

Type of inheritance?

A

mitochondrial

39
Q

Heteroplasmy and homoplasmy are affected by _________ segregation

40
Q

Type of inheritance for the following diseases: LHON, Kearns-Sayre, MELAS, MERRF

A

mitochondrial

41
Q

Amish, Mennonite and Hutterite communities have founder mutations for _____________ gene and 80 other disorders

A

glutaric acidemia (GA1)

42
Q

French Canadiens (28 disorders) have founder effects in ___________ syndrome and ___________ type I

A

Leigh syndrome
Tyrosinemia type I

43
Q

Which disorders should be considered when inheritance is linked through the female line?

A

XLD, XLR and mitochondrial

44
Q

Mendelian law of _____________ is violated by uniparental disomy

A

segregation

45
Q

Mendelian law of _______ ____________ is violated by genes closely linked on the same chromosome

A

independent assortment

46
Q

Mendelian law of _____________ is violated by co-dominance and incomplete dominance

47
Q

Type of inheritance?

48
Q

Type of inheritance?

A

XLR with homozygous mom

49
Q

Type of inheritance?

50
Q

Type of inheritance?

51
Q

Type of inheritance?

52
Q

Type of inheritance?

53
Q

Type of inheritance?

54
Q

For the sequence below, where the capital letters are an exon and the lower case letters are intronic, identify the canonical splice acceptor and splice donor site:

t t t a t t t c c a g T T G A A T C T T T C T G T A A C G T T A A C T G C T T C C A G g t a a g c c t g

A

gtag
GU 5 splice donor
AG 3 splice acceptor

55
Q

If the highlighted T* is c.151, write the HGVS nomenclature if the bolded and underlined G** is changed to an A:
t t t a t t t c c a g T* T G** A A T C T T T C T G T A A C G T T A A C T G C T T C C A G g t a a g c c t g

56
Q

If the highlighted T is c.151, write the HGVS nomenclature if the bolded and underlined base pairs** are deleted:
t t t a t t t c c a g T T G *A A T C T T T C T G T A A C G T T A A C T G C T T C C A G g t a a g c c t g

A

c. 154_156delAAT
or c. 154_156del

57
Q

If the highlighted T is c.151, write the HGVS nomenclature if 3 base pairs, “A-C-T” are inserted between the bolded and underlined base pairs:
t t t a t t t c c a g T T G A A T C ***T T T C T G T A A C G T T A A C T G C T T C C A G g t a a g c c t g

A

c. 157insACT

58
Q

If the highlighted T is c.151, write the HGVS nomenclature if the bolded and underlined base pairs are inverted:
t t t a t t t c c a g T T G *A A T** C T T T C T G T A A C G T T A A C T G C T T C C A G g t a a g c c t g

A

c.154_156inv
or c.154_156invATT

Clinical Cytogenetics and Molecular Genetics (21 decks)

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